Variant report

Variant	rs541764945
Chromosome Location	chr7:6865350-6865351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:6865281-6866125	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:6865303-6866220	GM12891	blood:	n/a	n/a
3	IRF4	chr7:6865174-6865536	GM12878	blood:	n/a	n/a
4	EBF1	chr7:6865243-6866014	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:6865159-6866243	GM12892	blood:	n/a	n/a
6	PAX5	chr7:6865084-6865742	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:6865280-6866387	GM12878	blood:	n/a	n/a
8	EBF1	chr7:6865278-6865704	GM12878	blood:	n/a	n/a
9	MYBL2	chr7:6865095-6866233	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:6865274-6866159	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr7:6865157-6866456	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:6865118-6866872	GM12878	blood:	n/a	n/a
13	NR2F2	chr7:6865194-6866276	K562	blood:	n/a	n/a
14	POLR2A	chr7:6865101-6866299	U87	brain:	n/a	n/a
15	FOSL2	chr7:6864946-6866167	HepG2	liver:	n/a	n/a
16	RUNX3	chr7:6865192-6865361	GM12878	blood:	n/a	n/a
17	POU2F2	chr7:6864949-6866234	GM12878	blood:	n/a	n/a
18	BATF	chr7:6865157-6865489	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:6865053-6866659	GM12892	blood:	n/a	n/a
20	POLR2A	chr7:6865209-6866236	GM12891	blood:	n/a	n/a
21	POLR2A	chr7:6865291-6866411	GM12878	blood:	n/a	n/a
22	CBX3	chr7:6864785-6865473	K562	blood:	n/a	n/a
23	POLR2A	chr7:6865063-6866179	Hela-S3	cervix:	n/a	n/a
24	SIN3AK20	chr7:6864943-6866262	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr7:6865004-6866259	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr7:6865233-6866328	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr7:6865268-6866401	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr7:6865349-6866728	MCF-7	breast:	n/a	n/a
29	POU2F2	chr7:6864837-6866508	GM12891	blood:	n/a	n/a
30	POLR2A	chr7:6865261-6866527	K562	blood:	n/a	n/a
31	TAF1	chr7:6865228-6866126	Hela-S3	cervix:	n/a	n/a
32	IRF4	chr7:6865038-6865382	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:6864962-6866242	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr7:6865096-6866307	GM12892	blood:	n/a	n/a
35	POLR2A	chr7:6865069-6866595	HepG2	liver:	n/a	n/a
36	SIN3AK20	chr7:6865078-6865379	SK-N-SH	brain:	n/a	n/a
37	PAX5	chr7:6865170-6866268	GM12878	blood:	n/a	n/a
38	HEY1	chr7:6865062-6866285	HepG2	liver:	n/a	n/a
39	GABPA	chr7:6865019-6866427	Hela-S3	cervix:	n/a	n/a
40	HEY1	chr7:6865148-6866210	K562	blood:	n/a	n/a
41	POLR2A	chr7:6865119-6866491	GM12878	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6766860..6769459-chr7:6864426..6866111,2	MCF-7	breast:

No data

Variant related genes	Relation type
CCZ1B	TF binding region
ENSG00000187953	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv887446	chr7:6758018-6870635	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv887449	chr7:6764583-6870635	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2757207	chr7:6764583-6977214	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv2759504	chr7:6764583-6977214	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv887450	chr7:6779270-6919214	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv887451	chr7:6779270-6985071	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv887452	chr7:6791749-6919214	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv887453	chr7:6803267-6919214	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv887454	chr7:6805437-6919214	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv887455	chr7:6820508-6960802	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv887456	chr7:6820508-6985071	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv887457	chr7:6820508-7163442	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
15	nsv887458	chr7:6832265-6948647	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv887459	chr7:6832265-6950761	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv887460	chr7:6832265-6952350	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv887461	chr7:6832265-7163442	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
19	esv2762647	chr7:6833877-6885538	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv981430	chr7:6849071-6893097	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
21	nsv1019159	chr7:6854098-6920268	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
22	nsv1033423	chr7:6854098-6932778	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
23	nsv1017971	chr7:6854098-6968616	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	nsv1023478	chr7:6854098-7001595	Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv1022295	chr7:6854098-7171376	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
26	nsv1021638	chr7:6854098-7188086	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
27	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
28	nsv887462	chr7:6855510-6986809	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
29	nsv981625	chr7:6864047-6874561	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6834000-6866000	Weak transcription	Gastric	stomach
2	chr7:6850400-6866000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:6855200-6866000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:6857000-6866000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:6859200-6865800	Weak transcription	Stomach Mucosa	stomach
6	chr7:6861600-6865800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:6861800-6865800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:6864200-6866400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:6864400-6866400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:6864400-6866800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:6864600-6865400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:6864600-6865400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr7:6864600-6866000	Enhancers	Primary B cells from cord blood	blood
14	chr7:6864600-6866200	Active TSS	Placenta Amnion	Placenta Amnion
15	chr7:6864600-6866200	Active TSS	NHLF	lung
16	chr7:6864600-6866400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:6864600-6866400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:6864600-6866400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:6864600-6866400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr7:6864600-6866800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:6864600-6866800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr7:6864600-6867000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:6864800-6865400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr7:6864800-6865400	Enhancers	Lung	lung
25	chr7:6864800-6865400	Active TSS	GM12878-XiMat	blood
26	chr7:6864800-6865400	Active TSS	K562	blood
27	chr7:6864800-6865600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:6864800-6865800	Weak transcription	Fetal Lung	lung
29	chr7:6864800-6866000	Active TSS	HSMMtube	muscle
30	chr7:6864800-6866200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr7:6864800-6866200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:6864800-6866200	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr7:6864800-6866200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:6864800-6866200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:6864800-6866200	Active TSS	Hela-S3	cervix
36	chr7:6864800-6866200	Active TSS	HMEC	breast
37	chr7:6864800-6866200	Active TSS	NHEK	skin
38	chr7:6864800-6866400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:6864800-6866400	Active TSS	Primary T cells from cord blood	blood
40	chr7:6864800-6866400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:6864800-6866400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:6864800-6866400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:6864800-6866400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:6864800-6866400	Active TSS	Brain Angular Gyrus	brain
45	chr7:6864800-6866400	Active TSS	Brain Cingulate Gyrus	brain
46	chr7:6864800-6866400	Active TSS	Brain Germinal Matrix	brain
47	chr7:6864800-6866400	Active TSS	Brain Hippocampus Middle	brain
48	chr7:6864800-6866400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr7:6864800-6866400	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr7:6864800-6866400	Active TSS	Pancreatic Islets	Pancreatic Islet

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